Varaico: Literature-Extracted Genetic Variants

AHI1

492 papers

RefSeq Summary

This gene is apparently required for both cerebellar and cortical development in humans. This gene mutations cause specific forms of Joubert syndrome-related disorders. Joubert syndrome (JS) is a rece...

Pfam Domains

WD40aa 644–682UCSCWD domain, G-beta repeat

WD40aa 688–726UCSCWD domain, G-beta repeat

WD40aa 735–772UCSCWD domain, G-beta repeat

WD40aa 846–871UCSCWD domain, G-beta repeat

SH3_1aa 1057–1103UCSCSH3 domain

Gene Aliases

HGNC Name

Abelson helper integration site 1

HGNC Alias Symbols

FLJ20069; ORF1; JBTS3

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001134831.2

p.P1117H

c.3350C>A

Surrounding Variants

1 paper

NM_001134831.2

p.E1121A

c.3362A>C

1 paper

NM_001134831.2

p.E1121D

c.3363G>T

1 paper

NM_001134831.2

p.E1121D

c.3363G>C

4 papers

NM_001134831.2

p.R1122*

c.3364C>T

13 papers

NM_001134831.2

p.S1123F

c.3368C>T

1 paper

NM_001134831.2

p.S1127N

c.3380G>A

2 papers

NM_001134831.2

p.P1140S

c.3418C>T

2 papers

NM_001134831.2

p.Q1141*

c.3421C>T

1 paper

NM_001134831.2

p.K1142fs

c.3424_3425fs

2 papers

NM_001134831.2

p.K1142delFs

c.3425delT

1 paper

NM_001134831.2

p.K1142_Q1143Splc

c.3426+13G>A

1 paper

NM_001134831.2

p.S1108G

c.3322A>G